Matt Parton
Overview
Explore the profile of Matt Parton including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
307
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0
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Recent Articles
1.
Muni-Lofra R, Murphy L, Adcock K, Farrugia M, Irwin J, Lilleker J, et al.
Front Neurol
. 2022 Jun;
13:866243.
PMID: 35707038
Spinal Muscular Atrophy (SMA) is characterized by muscle atrophy and weakness and has an incidence of 1:11. 000 live births which projects an estimated population in the UK of 650-1,300...
2.
Sangha G, Yao B, Lunn D, Skorupinska I, Germain L, Kozyra D, et al.
J Neurol Neurosurg Psychiatry
. 2021 Apr;
PMID: 33849999
Objective: To describe decline in muscle strength and physical function in patients with sporadic inclusion body myositis (IBM). Methods: Manual muscle testing (MMT), quantitative muscle testing (QMT) and disability scoring...
3.
Bugiardini E, Khan A, Phadke R, Lynch D, Cortese A, Feng L, et al.
Neuromuscul Disord
. 2019 Sep;
29(10):747-757.
PMID: 31561939
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused exome sequencing to investigate a cohort...
4.
Bugiardini E, Morrow J, Shah S, Wood C, Lynch D, Pitmann A, et al.
Front Neurol
. 2018 Jul;
9:456.
PMID: 29997562
Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical...
5.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, et al.
J Neurol Neurosurg Psychiatry
. 2018 Feb;
89(7):762-768.
PMID: 29437916
Background: Defects in glycosylation of alpha-dystroglycan (α-DG) cause autosomal-recessive disorders with wide clinical and genetic heterogeneity, with phenotypes ranging from congenital muscular dystrophies to milder limb girdle muscular dystrophies. Patients...
6.
Matthews E, Neuwirth C, Jaffer F, Scalco R, Fialho D, Parton M, et al.
Neurology
. 2018 Jan;
90(5):e412-e418.
PMID: 29298851
Objective: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor () gene mutations. Methods: Cases with a possible diagnosis of PP but additional clinicopathologic...
7.
Moris G, Wood L, Fernandez-Torron R, Gonzalez Coraspe J, Turner C, Hilton-Jones D, et al.
Muscle Nerve
. 2017 Oct;
57(3):380-387.
PMID: 29053898
Introduction: Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics...
8.
Brady S, Healy E, Gang Q, Parton M, Quinlivan R, Jacob S, et al.
J Neuropathol Exp Neurol
. 2016 Dec;
75(12):1171-1178.
PMID: 27941137
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range...
9.
Scalco R, Gardiner A, Pitceathly R, Hilton-Jones D, Schapira A, Turner C, et al.
Neuromuscul Disord
. 2016 Jun;
26(8):504-10.
PMID: 27312022
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular...
10.
Rodriguez Cruz P, Belaya K, Basiri K, Sedghi M, Farrugia M, Holton J, et al.
J Neurol Neurosurg Psychiatry
. 2016 May;
87(8):802-9.
PMID: 27147698
Background: Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. Methods: Review of case notes...